ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.700_713del (p.Asp234fs)

dbSNP: rs1567035745
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025911 SCV001188191 pathogenic Hereditary cancer-predisposing syndrome 2019-03-11 criteria provided, single submitter clinical testing The c.700_713del14 pathogenic mutation, located in coding exon 2 of the BLM gene, results from a deletion of 14 nucleotides at nucleotide positions 700 to 713, causing a translational frameshift with a predicted alternate stop codon (p.D234Rfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV001215519 SCV001387269 pathogenic Bloom syndrome 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp234Argfs*2) in the BLM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 826769). For these reasons, this variant has been classified as Pathogenic.

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